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Known and novel mutations responsible for epidermolysis bullosa simplex cases in a Chinese population

  • Authors:
    • Jia Zhang
    • Yu Ding
    • Ming Li
    • Zhirong Yao
    • Yin Zhuang
  • View Affiliations / Copyright

    Affiliations: Department of Dermatology, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200092, P.R. China, Dermatology Department, Mianyang Central Hospital, Mianyang, Sichuan 621000, P.R. China
    Copyright: © Zhang et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Pages: 4661-4664
    |
    Published online on: October 25, 2019
       https://doi.org/10.3892/etm.2019.8130
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Abstract

Epidermolysis bullosa simplex, generalized severe (EBS‑gen sev) is one of the major forms of EBS, caused by mutations of the keratin 5 (KRT5) or keratin 14 (KRT14). However, it is rarely reported in the Chinese population. The current study was performed on three unrelated Chinese families with five patients clinically suspicious for distinct stages of EBS. Mutation screening was performed by direct sequencing of the entire coding regions of KRT5 and KRT14 genes. A diagnosis of EBS‑gen sev for patients in these three families was confirmed by revealing missense mutations c.373C>T (p.Arg125Cys), c.374G>T (p.Arg125Leu), and a novel frameshift mutation c.1231delG (p.Glu411Argfs*31) in KRT14. Considering two previously reported cases and the results of the current report, amino acid residue 125 is likely the most frequent hotspot of EBS‑gen sev in the Chinese population. The current study further indicated that the symptoms of EBS‑gen sev patients decline with age.
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1 

Bolling MC, Lemmink HH, Jansen GH and Jonkman MF: Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients. Br J Dermatol. 164:637–644. 2011.PubMed/NCBI

2 

Fuchs E: The cytoskeleton and disease: Genetic disorders of intermediate filaments. Annu Rev Genet. 30:197–231. 1996. View Article : Google Scholar : PubMed/NCBI

3 

Fine JD, Bruckner-Tuderman L, Eady RA, Bauer EA, Bauer JW, Has C, Heagerty A, Hintner H, Hovnanian A, Jonkman MF, et al: Inherited epidermolysis bullosa: Updated recommendations on diagnosis and classification. J Am Acad Dermatol. 70:1103–1126. 2014. View Article : Google Scholar : PubMed/NCBI

4 

Coulombe PA, Hutton ME, Vassar R and Fuchs E: A function for keratins and a common thread among different types of epidermolysis bullosa simplex diseases. J Cell Biol. 115:1661–1674. 1991. View Article : Google Scholar : PubMed/NCBI

5 

Coulombe PA, Hutton ME, Letal A, Hebert A, Paller AS and Fuchs E: Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: Genetic and functional analyses. Cell. 66:1301–1311. 1991. View Article : Google Scholar : PubMed/NCBI

6 

Yasukawa K, Sawamura D, Goto M, Nakamura H, Jung SY, Kim SC and Shimizu H: Epidermolysis bullosa simplex in Japanese and Korean patients: Genetic studies in 19 cases. Br J Dermatol. 155:313–317. 2006. View Article : Google Scholar : PubMed/NCBI

7 

Hiremagalore R, Kubba A, Bansel S and Jerajani H: Immunofluorescence mapping in inherited epidermolysis bullosa: A study of 86 cases from India. Br J Dermatol. 172:384–391. 2015. View Article : Google Scholar : PubMed/NCBI

8 

Banerjee S, Wu Q, Yu P, Qi M and Li C: In silico analysis of all point mutations on the 2B domain of K5/K14 causing epidermolysis bullosa simplex: A genotype-phenotype correlation. Mol Biosyst. 10:2567–2577. 2014. View Article : Google Scholar : PubMed/NCBI

9 

Arin MJ, Grimberg G, Schumann H, De Almeida H Jr, Chang YR, Tadini G, Kohlhase J, Krieg T, Bruckner-Tuderman L and Has C: Identification of novel and known KRT5 and KRT14 mutations in 53 patients with epidermolysis bullosa simplex: Correlation between genotype and phenotype. Br J Dermatol. 162:1365–1369. 2010. View Article : Google Scholar : PubMed/NCBI

10 

Garcia M, Santiago JL, Terron A, Hernández-Martín A, Vicente A, Fortuny C, De Lucas R, López JC, Cuadrado-Corrales N, Holguín A, et al: Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex. Br J Dermatol. 165:683–692. 2011. View Article : Google Scholar : PubMed/NCBI

11 

Kang TW, Lee JS, Kim SE, Oh SW and Kim SC: Novel and recurrent mutations in Keratin 5 and 14 in Korean patients with Epidermolysis bullosa simplex. J Dermatol Sci. 57:90–94. 2010. View Article : Google Scholar : PubMed/NCBI

12 

Minakawa S, Nakano H, Nakajima K, Matsuzaki Y, Takiyoshi N, Akasaka E, Rokunohe D and Sawamura D: Mutational analysis on 16 Japanese population cases with epidermolysis bullosa simplex. J Dermatol Sci. 72:330–332. 2013. View Article : Google Scholar : PubMed/NCBI

13 

Müller FB, Küster W, Wodecki K, Almeida H Jr, Bruckner-Tuderman L, Krieg T, Korge BP and Arin MJ: Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: Implications for disease phenotype and keratin filament assembly. Hum Mutat. 27:719–720. 2006. View Article : Google Scholar

14 

Pfendner EG, Sadowski SG and Uitto J: Epidermolysis bullosa simplex: Recurrent and de novo mutations in the KRT5 and KRT14 genes, phenotype/genotype correlations, and implications for genetic counseling and prenatal diagnosis. J Invest Dermatol. 125:239–243. 2005. View Article : Google Scholar : PubMed/NCBI

15 

Letai A, Coulombe PA, McCormick MB, Yu QC, Hutton E and Fuchs E: Disease severity correlates with position of keratin point mutations in patients with epidermolysis bullosa simplex. Proc Natl Acad Sci USA. 90:3197–3201. 1993. View Article : Google Scholar : PubMed/NCBI

16 

Jankowski M, Wertheim-Tysarowska K, Jakubowski R, Sota J, Nowak W and Czajkowski R: Novel KRT14 mutation causing epidermolysis bullosa simplex with variable phenotype. Exp Dermatol. 23:684–687. 2014. View Article : Google Scholar : PubMed/NCBI

17 

Hon KL, Li JJ, Cheng BL, Luk DC, Murrell DF, Choi PC and Leung AK: Age and etiology of childhood epidermolysis bullosa mortality. J Dermatolog Treat. 26:178–182. 2015. View Article : Google Scholar : PubMed/NCBI

18 

Langan SM and Williams HC: A systematic review of randomized controlled trials of treatments for inherited forms of epidermolysis bullosa. Clin Exp Dermatol. 34:20–25. 2009. View Article : Google Scholar : PubMed/NCBI

19 

Siprashvili Z, Nguyen NT, Bezchinsky MY, Marinkovich MP, Lane AT and Khavari PA: Long-term type VII collagen restoration to human epidermolysis bullosa skin tissue. Hum Gene Ther. 21:1299–1310. 2010. View Article : Google Scholar : PubMed/NCBI

20 

Wagner JE, Ishida-Yamamoto A, McGrath JA, Hordinsky M, Keene DR, Woodley DT, Chen M, Riddle MJ, Osborn MJ, Lund T, et al: Bone marrow transplantation for recessive dystrophic epidermolysis bullosa. N Engl J Med. 363:629–639. 2010. View Article : Google Scholar : PubMed/NCBI

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Copy and paste a formatted citation
Spandidos Publications style
Zhang J, Ding Y, Li M, Yao Z and Zhuang Y: Known and novel mutations responsible for epidermolysis bullosa simplex cases in a Chinese population. Exp Ther Med 18: 4661-4664, 2019.
APA
Zhang, J., Ding, Y., Li, M., Yao, Z., & Zhuang, Y. (2019). Known and novel mutations responsible for epidermolysis bullosa simplex cases in a Chinese population. Experimental and Therapeutic Medicine, 18, 4661-4664. https://doi.org/10.3892/etm.2019.8130
MLA
Zhang, J., Ding, Y., Li, M., Yao, Z., Zhuang, Y."Known and novel mutations responsible for epidermolysis bullosa simplex cases in a Chinese population". Experimental and Therapeutic Medicine 18.6 (2019): 4661-4664.
Chicago
Zhang, J., Ding, Y., Li, M., Yao, Z., Zhuang, Y."Known and novel mutations responsible for epidermolysis bullosa simplex cases in a Chinese population". Experimental and Therapeutic Medicine 18, no. 6 (2019): 4661-4664. https://doi.org/10.3892/etm.2019.8130
Copy and paste a formatted citation
x
Spandidos Publications style
Zhang J, Ding Y, Li M, Yao Z and Zhuang Y: Known and novel mutations responsible for epidermolysis bullosa simplex cases in a Chinese population. Exp Ther Med 18: 4661-4664, 2019.
APA
Zhang, J., Ding, Y., Li, M., Yao, Z., & Zhuang, Y. (2019). Known and novel mutations responsible for epidermolysis bullosa simplex cases in a Chinese population. Experimental and Therapeutic Medicine, 18, 4661-4664. https://doi.org/10.3892/etm.2019.8130
MLA
Zhang, J., Ding, Y., Li, M., Yao, Z., Zhuang, Y."Known and novel mutations responsible for epidermolysis bullosa simplex cases in a Chinese population". Experimental and Therapeutic Medicine 18.6 (2019): 4661-4664.
Chicago
Zhang, J., Ding, Y., Li, M., Yao, Z., Zhuang, Y."Known and novel mutations responsible for epidermolysis bullosa simplex cases in a Chinese population". Experimental and Therapeutic Medicine 18, no. 6 (2019): 4661-4664. https://doi.org/10.3892/etm.2019.8130
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